Retno Sutomo
Department Of Child Health, Faculty Of Medicine, Public Health, And Nursing Universitas Gadjah Mada, Yogyakarta, Indonesia

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Journal : Paediatrica Indonesiana

Detection of the jaundice-related G71R mutation in the UGT1A1 gene by denaturing high performance liquid chromatography (DHPLC) Retno Sutomo; Sunartini Hapsara; Suryono Yudha Patria; Hajime Nakamura
Paediatrica Indonesiana Vol 49 No 1 (2009): January 2009
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (172.816 KB) | DOI: 10.14238/pi49.1.2009.1-6

Abstract

Background  The  G71R mutation in the UGT1A1 gene has  beenassociated with neonatal jaundice  and  other  cases  of  hereditary,unconjugated hyperbilirubinemia in several Asian populations.Currently,  DNA  sequencing  is  the  only  method  available  toidentify the mutation, which can be time- and  labor-intensive,particularly for such projects  as  population-based genetic studies.A relatively new method, denaturing high performance liquidchromatography (DHPLC),  is  increasingly used to  detect  variousmutations.Objective  The  aim  of  the present study was to investigate theability of DHPLC to  detect  the G71R mutation, in comparisonwith the gold standard of sequencing analysis.Methods Seventy-two infants were enrolled. Following genomicDNA  extraction, exon 1 of the UGT1A1 gene was amplified  bypolymerase chain reaction (PCR). Afterwards, the G71R mutationwas simultaneously,  and  blindly, determined in all subjects  byDHPLC and sequence analysis.  The  performance  of  the DHPLCanalysis, compared  to  the sequence analysis, was assessed in termsof  sensitivity  and  specificity.Results DHPLC detected the G71 R mutation in  31  individuals.Of  these,  26  were heterozygous and 5 were homozygous for themutation. This method did not find the mutation in  41  otherindividuals. Sequence analysis produced identical results for allindividuals.Conclusion DHPLC analysis  is  capable  of  detecting the G71Rmutation  in  the  UGT1A1  with  a degree  of  sensitivity  andspecificity  (100%  each)  that  is  comparable to sequencing analysis.
Behavioral problems in children with epilepsy Dora Novriska; Retno Sutomo; Amalia Setyati
Paediatrica Indonesiana Vol 54 No 6 (2014): November 2014
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/pi54.6.2014.324-9

Abstract

Background Epilepsy is a neurological disorder that most oftenaffects children. Most cases of epilepsy are found in developingcountries. Children with epilepsy are at risk of behavioral disordersthat can affect their quality of life. Studies on behavioral problemsin children with epilepsy have been limited in Indonesia.Objective To compare behavioral disorders in children withepilepsy to those in normal children, and to assess for possiblefactors associated with the occurrence of behavioral disorders.Methods We conducted a cross-sectional study involving 47children with epilepsy and 46 children without epilepsy, aged 3-16years. Behavioral problems were screened with the Strength andDifficulty Questionnaire (SDQ), Indonesian version. Informationabout EEG description, medication, onset, and duration of epilepsywere obtained from medical records.Results Behavioral problems were found in 19.1% of childrenwith epilepsy and only in 2.2 % of children without epilepsy (PR8.8; 95%CI 1.16 to 66.77; P= 0.015). Significant differences werealso found in the percentage of conduct problems and emotionaldisorders. Multivariate analysis with logistic regression revealedthat the factors associated with behavioral disorders in childrenwith epilepsy were uncontrolled epilepsy (PR 13.9; 95%CI 1.45 to132.4; P=0.023) and focal EEG appearance (PR 19; 95%CI 1.71to 214.43; P=0.017). We also found that uncontrolled epilepsywas a factor related to emotional (PR 6.7; 95%CI 1.66 to 26.76;P=0.007) and conduct problems (PR 6.1; 95%CI 1.35 to 27.29;P=0.019).Conclusion Uncontrolled epilepsy and focal EEG results arefactors associated with increased risk of behavioral problems inchildren with epilepsy. Children with epilepsy should undergobehavioral disorder screening, followed by diagnosis confirmationand treatment.
Long-term follow up of a tuberous sclerosis patient: evaluation of anti-epileptic drugs and self- management support therapy Anindya Diwasasri; Retno Danarti; Retno Sutomo; Sunartini Hapsara
Paediatrica Indonesiana Vol 60 No 1 (2020): January 2020
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (1555.75 KB) | DOI: 10.14238/pi60.1.2020.53-60

Abstract

Tuberous sclerosis (TSC) (OMIM 191100) is an inherited, autosomal dominant disorder affecting multiple organ systems.1 A genetic mutation in one of the tumor suppressor gene (TSG) alleles causes tumor growth in various organ systems. Tuberous sclerosis can be found in people of all races, and does not differ in men and women, with an incidence 1 in 6,000 births and prevalence of 1 in 20,000.1-3 Although the prevalence is quite high, diagnosing this disorder is often difficult and delayed due to diverse disease manifestations and varied age at onset.
Sleep disturbance associations with blood pressure and body mass index in school-aged children Restu Maharany Arumningtyas; Agung Triono; Retno Sutomo
Paediatrica Indonesiana Vol 60 No 6 (2020): November 2020
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/pi60.6.2020.303-9

Abstract

Background Sleep disturbances can lead to many health problems in school-aged children, including hypertension and obesity. However, a lack of consensus about the etiology of these conditions is due to conflicting reports on the possible effects of sleep disturbances. Objective To assess for possible associations between sleep disturbances and blood pressure as well as body mass index in school-aged children. Methods This cross-sectional study involved primary school children in the 4th-5th grades. Subjects’ blood pressure, body weight, and body height were measured and their parents completed the Sleep Disturbances Scale for Children (SDSC) questionnaire. Results Of the 816 children enrolled, 503 (61.6%) children had sleep disturbances. The most common type of sleep disturbance was initiating and maintaining sleep. Bivariate analysis revealed a significantly increased risk of hypertension among subjects with sleep disturbances (PR 15.06; 95%CI 8.13 to 27.90) and increased risk of obesity (PR 22.65; 95%CI 12.28 to 41.78). Conclusion The most common type of sleep disturbance is initiating and maintaining sleep. Sleep disturbances are significantly associated with hypertension and obesity in children.
Predictors of early growth failure in preterm, very low birth weight infants during hospitalization Noviyani Leksomono; Retno Sutomo; Ekawaty Lutfia Haksari
Paediatrica Indonesiana Vol 59 No 1 (2019): January 2019
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (255.487 KB) | DOI: 10.14238/pi59.1.2019.44-50

Abstract

Background Preterm, very low birth weight (VLBW) infants experience intrauterine nutritional deficits and perinatal comorbidities that may impair early growth parameters. Early growth failure has detrimental effects on later growth and neurodevelopment in childhood. Objective To analyze predictors of early growth failure in preterm, VLBW infants and differences in early growth parameters between small-for-gestational age (SGA) and appropriate-for-gestational age (AGA) infants. Methods This retrospective cohort study was conducted at Dr. Sardjito Hospital, Yogyakarta from 2011 to 2016. Subjects were preterm infants, with birth weights of 1,000-1,499 g. Twins, those who died during hospitalization, were discharged against medical advice, or had incomplete medical records were excluded. Adequate intrauterine growth was determined by the Lubchenco table criteria. Growth parameters and perinatal comorbidities were collected from medical records. Growth failure was defined as discharge weight less than 10th percentile of the Fenton growth curve. Bivariate and multivariate analysis were used to analyze potential predictive factors of early growth failure. Results Of 646 preterm, VLBW infants during the study period, 398 were excluded. Respiratory distress and SGA were predictors of early growth failure (AOR 6.94; 95%CI 2.93 to 16.42 and AOR 34.44; 95%CI 7.79 to 152.4, respectively). Mean weight velocities in SGA and AGA infants were not significantly different [16.5 (SD 5.9) and 17.5 (SD 5.3) g/kg/day, respectively; (P=0.25)]. Median time to regain, time to reach full feeding, and time to reach 120 kcal/kg/day were also not significantly different between SGA and AGA infants. Conclusions SGA and respiratory distress are predictors of early growth failure in preterm, VLBW infants during hospitalization. The SGA infants grow slower than AGA infants.
Sleep disorders and associated factors in children with cerebral palsy Sari Wardhani Mahligai Patery; Sunartini Sunartini; Retno Sutomo
Paediatrica Indonesiana Vol 61 No 4 (2021): July 2021
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/pi61.4.2021.179-85

Abstract

Background Sleep disorders are a condition affecting quality and quantity of sleep. Children with cerebral palsy (CP) have higher risk of sleep disorders than those with no chronic disease. Objective To determine the prevalence and factors associated with sleep disorders in children with CP. Methods We conducted an analytic, observational study with cross-sectional design in children aged 4-10 years with CP. Subjects were recruited consecutively; children with chronic diseases (cardiovascular, malignancy, chronic obstructive pulmonary disease, and diabetes mellitus) were excluded from the study. Primary data including sociodemographics, intensity of physiotherapy outside Sardjito General Hospital (SGH), sleep hygiene, and sleep disorders were collected from the Children’s Sleep Habit Questionnaire (CSHQ). Secondary data were acquired from medical records, such as type of CP, severity of motor function impairment, presence of epilepsy, intensity of physiotherapy performed at SGH, as well as anti-epileptic, anti-spastic, and sleep-affecting medicines. Results We found sleep disorders in 64 of 75 (85%) subjects, mostly bedtime resistance (66%). Spastic quadriplegia (OR=3.63; 95%CI 1.82 to15.94) and presence of epilepsy (OR=7.82; 95%CI 1.53 to 39.84) were significantly associated with sleep disorders in children with CP aged 4-10 years. Conclusion Sleep disorders are common in children with CP, with the majority experiencing bedtime resistance. Sleep disorders are more prevalent in subjects with spastic quadriplegia and epilepsy.